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HMSNL in a 13-year-old Bulgarian girl.

Neuromuscular disorders : NMD - 1 Apr 1998

Baethmann M, Göhlich-Ratmann G, Schröder J M, Kalaydjieva L, Voit T

Abstract excerpt

We present a 13-year-old Bulgarian girl with a new form of demyelinating neuropathy with hearing loss. The clinical and neuropathological features of the patient were similar to those of the recently described hereditary motor and sensory neuropathy type Lom (HMSNL), first identified in a large B...

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Adolescent
Biopsy
Evoked Potentials, Auditory, Brain Stem
Genes, Recessive
Haplotypes
Hereditary Sensory and Motor Neuropathy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Neural Conduction

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Identifiers

PMID: 9608562
DOI: 10.1016/s0960-8966(98)00011-x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026. Prepared record publication-9608562-2026-08-31.1. Manifest publication-graph-cohort-2026-08-31.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 31 Aug 2026.

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